R34K (p.Arg34Lys) variant of BRIP1 (Fanconi anemia group J protein)
R34K (p.Arg34Lys) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R34K (p.Arg34Lys) variant details
- p.Arg34Lys
- Ensembl rs786201468
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available